Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.

Breast cancer research : BCR - 25 May 2012

Acedo Alberto, Sanz David J, Durán Mercedes, Infante Mar, Pérez-Cabornero Lucía, Miner Cristina, Velasco Eladio A

Abstract excerpt

INTRODUCTION: The underlying pathogenic mechanism of a large fraction of DNA variants of disease-causing genes is the disruption of the splicing process. We aimed to investigate the effect on splicing of the BRCA2 variants c.8488-1G > A (exon 20) and c.9026_9030del (exon 23), as well as 41 BRCA2 variants reported in the Breast Cancer Information Core (BIC) mutation database. METHODS: DNA variants were analyzed...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to BRCA2 Protein
Share to Genes, BRCA2

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to HeLa Cells

Share to Recombination, Genetic

Share to RNA Isoforms

Share to RNA Splice Sites

Share to RNA Splicing

Share to Sequence Deletion

Source

Open in PubMed Open full text

Identifiers

PMID: 22632462
DOI: 10.1186/bcr3202
PMCID: PMC3446350

Genes

BRCA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.PMID 22632462Read ↗

Functional analysis of BRCA1 and BRCA2 splicing variants using a minigene assay.Semantic proximity Read ↗

Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.Semantic proximity Read ↗

Functional characterization of BRCA1 gene variants by mini-gene splicing assay.Semantic proximity Read ↗

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.Semantic proximity Read ↗

Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic.Semantic proximity Read ↗

Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts.Semantic proximity Read ↗

Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.Semantic proximity Read ↗

Protocol for designing and interpreting minigene assays to validate candidate splice altering variantsSemantic proximity Read ↗

Minigene reporter for identification and analysis of cis elements and trans factors affecting pre-mRNA splicing.Semantic proximity Read ↗

Assessing the Impact of Novel BRCA1 Exon 11 Variants on Pre-mRNA Splicing.Semantic proximity Read ↗

Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.Semantic proximity Read ↗

Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.